Variant report

Variant	esv12960
Chromosome Location	chr6:114663097-114665140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:237)
CpG islands
(count:550)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:237 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:114664772-114664961	HepG2	liver:	n/a	n/a
2	BACH1	chr6:114664491-114665091	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:114663394-114664060	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr6:114663677-114663876	K562	blood:	n/a	n/a
5	CEBPD	chr6:114663784-114664113	HepG2	liver:	n/a	n/a
6	CHD1	chr6:114664492-114665073	H1-hESC	embryonic stem cell:	n/a	chr6:114664512-114664522
7	CHD2	chr6:114664643-114665180	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr6:114663992-114664044	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr6:114662281-114665659	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr6:114664762-114664898	GM10266	blood:	n/a	n/a
11	CTCF	chr6:114664773-114664873	GM20000	blood:	n/a	n/a
12	CTCF	chr6:114664740-114664890	GM12865	blood:	n/a	n/a
13	CTCF	chr6:114664760-114664910	HMF	breast:	n/a	n/a
14	CTCF	chr6:114664780-114664930	GM12869	blood:	n/a	n/a
15	CTCF	chr6:114664680-114664830	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:114664701-114664961	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr6:114664760-114664910	GM12866	blood:	n/a	n/a
18	CTCF	chr6:114664740-114664890	HPF	lung:	n/a	n/a
19	CTCF	chr6:114664800-114664889	GM19239	blood:	n/a	n/a
20	CTCF	chr6:114664799-114664877	GM13977	blood:	n/a	n/a
21	CTCF	chr6:114664740-114664890	GM12873	blood:	n/a	n/a
22	CTCF	chr6:114664740-114664890	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr6:114664746-114664901	NHEK	skin:	n/a	n/a
24	CTCF	chr6:114664980-114665130	GM12868	blood:	n/a	n/a
25	CTCF	chr6:114664020-114664170	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr6:114664740-114664890	HMEC	breast:	n/a	n/a
27	CTCF	chr6:114664780-114664930	HCFaa	heart:	n/a	n/a
28	CTCF	chr6:114664720-114664870	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr6:114664800-114664950	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr6:114664680-114664830	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr6:114664920-114665070	HAc	cerebellar:	n/a	n/a
32	CTCF	chr6:114664760-114664910	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr6:114664740-114664890	AG09319	gingival:	n/a	n/a
34	CTCF	chr6:114664760-114664910	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr6:114664700-114664850	WI-38	lung:	n/a	n/a
36	CTCF	chr6:114664840-114664990	BJ	skin:	n/a	n/a
37	CTCF	chr6:114664779-114664897	GM10248	blood:	n/a	n/a
38	CTCF	chr6:114664660-114664810	HCT-116	colon:	n/a	n/a
39	CTCF	chr6:114664780-114664930	HEK293	kidney:	n/a	n/a
40	CTCF	chr6:114664738-114664922	GM19238	blood:	n/a	n/a
41	CTCF	chr6:114663880-114664030	HEK293	kidney:	n/a	n/a
42	CTCF	chr6:114664760-114664910	GM12874	blood:	n/a	n/a
43	CTCF	chr6:114664778-114664856	LNCaP	prostate:	n/a	n/a
44	CTCF	chr6:114664653-114664965	MCF-7	breast:	n/a	n/a
45	CTCF	chr6:114664780-114664930	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr6:114664700-114664850	NHLF	lung:	n/a	n/a
47	CTCF	chr6:114664611-114665110	A549	lung:	n/a	n/a
48	CTCF	chr6:114664860-114665010	GM12868	blood:	n/a	n/a
49	CTCF	chr6:114664699-114664960	Gliobla	brain:	n/a	n/a
50	CTCF	chr6:114664762-114664898	GM19240	blood:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:114663972-114664022	GM12892	blood:	n/a
2	chr6:114663972-114664022	GM12892	blood:	n/a
3	chr6:114664754-114664804	HAEpiC	amniotic membrane:	n/a
4	chr6:114663564-114663614	PrEC	prostate:	n/a
5	chr6:114664843-114664893	NHDF-neo	bronchial:	n/a
6	chr6:114663570-114663620	AG04450	lung:	fetal
7	chr6:114664754-114664804	HCT-116	colon:	n/a
8	chr6:114663564-114663614	HAEpiC	amniotic membrane:	n/a
9	chr6:114663564-114663614	ProgFib	skin:	n/a
10	chr6:114663564-114663614	AG09309	skin:	n/a
11	chr6:114664843-114664893	HAEpiC	amniotic membrane:	n/a
12	chr6:114664843-114664893	CMK	blood:	n/a
13	chr6:114663972-114664022	SK-N-SH	brain:	n/a
14	chr6:114663564-114663614	HepG2	liver:	n/a
15	chr6:114663223-114663273	SK-N-SH	brain:	n/a
16	chr6:114663972-114664022	HRPEpiC	eye:	n/a
17	chr6:114664843-114664893	Hepatocyte	liver:	n/a
18	chr6:114663972-114664022	ovcar-3	ovarian:	n/a
19	chr6:114663570-114663620	ECC-1	luminal epithelium:	n/a
20	chr6:114663972-114664022	NHBE	bronchial:	n/a
21	chr6:114664754-114664804	HCPEpiC	choroid plexus:	n/a
22	chr6:114663564-114663614	HIPEpiC	eye:	n/a
23	chr6:114664843-114664893	A549	lung:	n/a
24	chr6:114664843-114664893	NHBE	bronchial:	n/a
25	chr6:114665013-114665063	ProgFib	skin:	n/a
26	chr6:114665013-114665063	HAEpiC	amniotic membrane:	n/a
27	chr6:114665013-114665063	SAEC	small airway:	n/a
28	chr6:114663223-114663273	HEEpiC	esophagus:	n/a
29	chr6:114665013-114665063	CMK	blood:	n/a
30	chr6:114663223-114663273	AG04450	lung:	fetal
31	chr6:114665013-114665063	HRPEpiC	eye:	n/a
32	chr6:114663223-114663273	ECC-1	luminal epithelium:	n/a
33	chr6:114663570-114663620	H1-hESC	embryonic stem cell:	embryo
34	chr6:114664843-114664893	HCF	heart:	n/a
35	chr6:114663972-114664022	HUVEC	blood vessel:	n/a
36	chr6:114663139-114663189	GM12891	blood:	n/a
37	chr6:114664843-114664893	BJ	skin:	n/a
38	chr6:114663223-114663273	PFSK-1	brain:	n/a
39	chr6:114663223-114663273	GM06990	blood:	n/a
40	chr6:114663570-114663620	HL-60	blood:	n/a
41	chr6:114664843-114664893	AG04450	lung:	fetal
42	chr6:114663139-114663189	Jurkat	blood:	n/a
43	chr6:114663570-114663620	NT2-D1	testis:	n/a
44	chr6:114663223-114663273	ProgFib	skin:	n/a
45	chr6:114663692-114663742	U87	brain:	n/a
46	chr6:114664754-114664804	HIPEpiC	eye:	n/a
47	chr6:114663223-114663273	Jurkat	blood:	n/a
48	chr6:114664754-114664804	NT2-D1	testis:	n/a
49	chr6:114663692-114663742	HEK293	kidney:	embryo
50	chr6:114663570-114663620	BE2_C	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:114290903..114293553-chr6:114664243..114666092,2	MCF-7	breast:
2	chr6:114417733..114418278-chr6:114664810..114665478,2	MCF-7	breast:
3	chr6:114662119..114667220-chr6:114669334..114673077,6	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCKS-5	chr6:114663414-114663553	NONHSAT114608
2	lnc-MARCKS-5	chr6:114663487-114663628	NONHSAT114607

No data

Variant related genes	Relation type
HS3ST5	TF binding region
HS3ST5	CpG island
ENSG00000196591	chromatin interactions
ENSG00000218089	chromatin interactions
ENSG00000228624	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28580591	chr6:114663140-114663141	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560945526	chr6:114663239-114663240	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531553834	chr6:114663243-114663244	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116778000	chr6:114663256-114663257	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568780155	chr6:114663283-114663284	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs202127550	chr6:114663291-114663292	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs71566768	chr6:114663295-114663296	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551295669	chr6:114663334-114663335	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551267988	chr6:114663336-114663337	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370051997	chr6:114663360-114663361	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566696520	chr6:114663402-114663403	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2208945	chr6:114663405-114663406	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs5879261	chr6:114663425-114663426	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs397888518	chr6:114663429-114663430	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs540510104	chr6:114663512-114663513	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs2224692	chr6:114663524-114663525	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527646640	chr6:114663584-114663585	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs577672986	chr6:114663585-114663586	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs542974342	chr6:114663588-114663589	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs537805636	chr6:114663603-114663604	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs556216696	chr6:114663624-114663625	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs529004752	chr6:114663634-114663635	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565335883	chr6:114663635-114663636	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545718394	chr6:114663636-114663637	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373159572	chr6:114663637-114663638	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs13204902	chr6:114663660-114663661	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572647832	chr6:114663665-114663666	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs13204905	chr6:114663670-114663671	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371076442	chr6:114663673-114663674	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542817393	chr6:114663692-114663693	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544020863	chr6:114663720-114663721	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188334168	chr6:114663776-114663777	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567693721	chr6:114663801-114663802	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531710061	chr6:114663831-114663832	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140777998	chr6:114663888-114663889	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs180677916	chr6:114663970-114663971	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536635754	chr6:114664017-114664018	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564968905	chr6:114664106-114664107	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs28454866	chr6:114664120-114664121	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533064591	chr6:114664147-114664148	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13205447	chr6:114664232-114664233	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551698551	chr6:114664262-114664263	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs13205565	chr6:114664285-114664286	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs566655403	chr6:114664316-114664317	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs533946359	chr6:114664335-114664336	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs549213584	chr6:114664363-114664364	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs567340741	chr6:114664378-114664379	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs537967739	chr6:114664384-114664385	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs143189059	chr6:114664421-114664422	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs186295130	chr6:114664435-114664436	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Acute myeloid leukemia	19651600	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114659800-114665400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:114661000-114665000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:114661000-114665200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:114661000-114665800	Active TSS	Brain Anterior Caudate	brain
5	chr6:114661200-114665000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:114661200-114665200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:114661400-114665200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:114661400-114665400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:114661400-114665600	Active TSS	Brain Angular Gyrus	brain
10	chr6:114661600-114665000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:114661600-114665200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:114661800-114665000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:114662000-114663400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr6:114662200-114663400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:114662200-114665200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:114662200-114665400	Active TSS	Brain Substantia Nigra	brain
17	chr6:114662200-114665600	Active TSS	Brain Cingulate Gyrus	brain
18	chr6:114662400-114663200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:114662400-114663200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:114662400-114663400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:114662400-114663400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:114662400-114663400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr6:114662400-114664000	Bivalent/Poised TSS	HepG2	liver
24	chr6:114662400-114664400	Active TSS	HSMMtube	muscle
25	chr6:114662400-114665000	Active TSS	Fetal Kidney	kidney
26	chr6:114662400-114665400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:114662600-114663200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:114662600-114663200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:114662600-114663200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:114662600-114663200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
31	chr6:114662600-114663400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr6:114662600-114663400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
33	chr6:114662600-114663400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
34	chr6:114662600-114663400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr6:114662600-114663400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr6:114662600-114663400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
37	chr6:114662600-114663600	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr6:114662600-114664200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr6:114662600-114664600	Active TSS	HSMM	muscle
40	chr6:114662600-114664800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr6:114662800-114663200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:114662800-114663200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:114662800-114663200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr6:114662800-114663200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
45	chr6:114662800-114663200	Bivalent Enhancer	Lung	lung
46	chr6:114662800-114663200	Bivalent/Poised TSS	Right Ventricle	heart
47	chr6:114662800-114663400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr6:114662800-114663400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr6:114662800-114663400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr6:114662800-114663400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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